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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NPRL3 Gene

protein-coding   GIFtS: 49
GCID: GC16M000134

Nitrogen Permease Regulator-Like 3 (S. Cerevisiae)

(Previous name: chromosome 16 open reading frame 35)
(Previous symbol: C16orf35)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Nitrogen Permease Regulator-Like 3 (S. Cerevisiae)1 2     Chromosome 16 Open Reading Frame 351
C16orf351 2 3     HS-402
CGTHBA2 3 5     NPR32
Conserved Gene Telomeric To Alpha Globin Cluster1 2     RMD112
Alpha-Globin Regulatory Element-Containing Gene Protein2 3     Nitrogen Permease Regulator 3-Like Protein2
-14 Gene Protein2 3     Protein CGTHBA3
MARE2 3     

External Ids:    HGNC: 141241   Entrez Gene: 81312   Ensembl: ENSG000001031487   OMIM: 6009285   UniProtKB: Q129803   

Export aliases for NPRL3 gene to outside databases

Previous GC identifer: GC16M000054


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for NPRL3 Gene:
The function of the encoded protein is not known. (provided by RefSeq, Aug 2011)

GeneCards Summary for NPRL3 Gene: 
NPRL3 (nitrogen permease regulator-like 3 (S. cerevisiae)) is a protein-coding gene. Diseases associated with NPRL3 include secondary hypertrophic osteoarthropathy, and myoblastoma. GO annotations related to this gene include molecular_function.

summary for NPRL3 Gene:
Natriuretic peptide (NP) receptors are single transmembrane catalytic receptors with intracellular guanylyl
cyclase activity. There are three isoforms of NP receptors; NPR1, NPR2 and NPR3, which have conserved
catalytic and regulatory domains and divergent ligand binding domains. Natruiretic peptide receptors bind
alpha-atrial natriuretic peptide, brain natriuretic peptide and type C-natriuretic peptide with varying
affinity and are found in the brain, vasculature and kidney. The main physiological role of NP receptors is
in homeostasis of body fluid volume.




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.2  NT_010393.16  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for NPRL3
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): NPRL3 promoter sequence
   Search SABiosciences Chromatin IP Primers for NPRL3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NPRL3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p13.3   Ensembl cytogenetic band:  16p13.3   HGNC cytogenetic band: 16p13.3

NPRL3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NPRL3 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M000134:  view genomic region     (about GC identifiers)

Start:
134,273 bp from pter      End:
188,859 bp from pter
Size:
54,587 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: NPRL3_HUMAN, Q12980 (See protein sequence)
Recommended Name: Nitrogen permease regulator 3-like protein  
Size: 569 amino acids; 63605 Da
Subunit: Forms a heterodimer with NPRL2
Caution: Ser-489 is missing in the human genome assembly but is present in all available mRNAs and ESTs
Secondary accessions: D3DU40 Q1W6H0 Q4TT56 Q92469

Explore the universe of human proteins at neXtProt for NPRL3: NX_Q12980

Explore proteomics data for NPRL3 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q12980

  • NPRL3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NPRL3 Protein Expression
    REFSEQ proteins (5 alternative transcripts): 
    NP_001034565.1  NP_001070818.1  NP_001230176.1  NP_001230177.1  NP_001230178.1  

    ENSEMBL proteins: 
     ENSP00000401594   ENSP00000382838   ENSP00000418475   ENSP00000405942   ENSP00000395288  
     ENSP00000401529   ENSP00000399894   ENSP00000382834   ENSP00000382832  

    Human Recombinant Protein Products for NPRL3: 
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    OriGene Purified Protein for NPRL3
    OriGene Protein Over-expression Lysate for NPRL3
    OriGene MassSpec for NPRL3 
    OriGene Custom Protein Services for NPRL3
    GenScript Custom Purified and Recombinant Proteins Services for NPRL3
    Novus Biologicals NPRL3 Protein
    Novus Biologicals NPRL3 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for NPRL3 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--

    NPRL3 for ontologies           About GeneDecksing



    NPRL3 Antibody Products: 
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    Abcam antibodies for NPRL3
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    LSBio Antibodies in human, mouse, rat for NPRL3 

    Assay Products for NPRL3: 
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    GenScript Custom Assay Services for NPRL3
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    Cloud-Clone Corp. ELISAs for NPRL3 
    Cloud-Clone Corp. CLIAs for NPRL3


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR005365 NPR3
     IPR008979 Galactose-bd-like

    Graphical View of Domain Structure for InterPro Entry Q12980

    ProtoNet protein and cluster: Q12980

    1 Blocks protein domain: IPB005365 Protein of unknown function UPF0171

    UniProtKB/Swiss-Prot: NPRL3_HUMAN, Q12980
    Similarity: Belongs to the NPR3 family


    NPRL3 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0005096GTPase activator activity IEA--
         
    NPRL3 for ontologies           About GeneDecksing


    Phenotypes:
         13 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Nprl3):
     cardiovascular system  craniofacial  digestive/alimentary  embryogenesis  growth/size 
     hematopoietic system  homeostasis/metabolism  immune system  integument  liver/biliary system 
     mortality/aging  muscle  no phenotypic analysis 

    NPRL3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for NPRL3: Hba/Nprl3Hba/tm1.1Wgw Hba/Nprl3Hba/tm1Wgw

       inGenious Targeting Laboratory - Custom generated mouse model solutions for NPRL3 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for NPRL3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NPRL3 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NPRL3 

    miRNA
    Products:
        
    miRTarBase miRNAs that target NPRL3:
    hsa-mir-30a (MIRT005159), hsa-mir-16 (MIRT001435)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NPRL3
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate NPRL3
    SwitchGear 3'UTR luciferase reporter plasmidNPRL3 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for NPRL3
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of NPRL3

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for NPRL3 (see all 11)
    OriGene ORF clones in mouse, rat for NPRL3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): NPRL3 (NM_001077350)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NPRL3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NPRL3
    Sirion Biotech Customized lentivirus for stable overexpression of NPRL3 
                         Customized lentivirus expression plasmids for stable overexpression of NPRL3 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for NPRL3
    LifeMap BioReagents: cell line associated with NPRL3: PureStem ES-210, Ecto-ntu Progenitor
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NPRL3


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NPRL3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    5/6 Interacting proteins for NPRL3 (Q129801, 3 ENSP000003828344) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NPRL2Q8WTW41, 3, ENSP000002325014EBI-2650314,EBI-1043552 I2D: score=2 STRING: ENSP00000232501
    TP53P046373, ENSP000002693054I2D: score=1 STRING: ENSP00000269305
    TP63Q9H3D43, ENSP000002647314I2D: score=1 STRING: ENSP00000264731
    TP73O153503, ENSP000003675454I2D: score=1 STRING: ENSP00000367545
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--

    NPRL3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for NPRL3 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Brain natriuretic peptide (1-32) (human)Endogenous peptide agonist at ANP receptor A (NPR1)[124584-08-3]
    C-type natriuretic peptide (1-22) (human, rat, swine) Endogenous peptide agonist at NPR2[127869-51-6]
    Atrial natriuretic factor (1-28) (human, porcine) Endogenous peptide regulating blood pressure[91917-63-4]
    Atrial natriuretic factor (1-28) (rat)Endogenous peptide regulating blood pressure[88898-17-3]

    Search CenterWatch for drugs/clinical trials and news about NPRL3

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for NPRL3 gene (6 alternative transcripts): 
    NM_001039476.2  NM_001077350.2  NM_001243247.1  NM_001243248.1  NM_001243249.1  NM_012075.1  

    Unigene Cluster for NPRL3:

    Nitrogen permease regulator-like 3 (S. cerevisiae)
    Hs.19699  [show with all ESTs]
    Unigene Representative Sequence: BX648258
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000463178 ENST00000445810 ENST00000428323 ENST00000399957(uc002cfq.3)
    ENST00000405960(uc010uua.1 uc002cfp.2 uc021szl.1 uc002cfr.3)
    ENST00000464069 ENST00000473674 ENST00000483663 ENST00000457916 ENST00000422814
    ENST00000468260 ENST00000456528 ENST00000419636 ENST00000399953 ENST00000399951

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NPRL3
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate NPRL3
    SwitchGear 3'UTR luciferase reporter plasmidNPRL3 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for NPRL3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NPRL3
    Clone
    Products:
         
    OriGene clones in human, mouse for NPRL3 (see all 11)
    OriGene ORF clones in mouse, rat for NPRL3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): NPRL3 (NM_001077350)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NPRL3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NPRL3
    Sirion Biotech Customized lentivirus for stable overexpression of NPRL3 
                         Customized lentivirus expression plasmids for stable overexpression of NPRL3 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for NPRL3
    OriGene qSTAR qPCR primer pairs in human, mouse for NPRL3
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat NPRL3
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NPRL3
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NPRL3

    Additional mRNA sequence: 

    AK026990.1 AK090717.1 AK294228.1 AK298795.1 AK300736.1 BC004185.2 BC012825.2 BC020392.1 
    BX648258.1 

    24/56 DOTS entries (see all 56):

    DT.100780618  DT.451591  DT.95286494  DT.95226846  DT.99948581  DT.100029330  DT.100780620  DT.120688491 
    DT.120688508  DT.120688527  DT.100835167  DT.120688554  DT.92446748  DT.95190909  DT.120688484  DT.120688506 
    DT.120688583  DT.120688594  DT.120688602  DT.120688608  DT.95092525  DT.100687461  DT.100780622  DT.120688488 

    24/293 AceView cDNA sequences (see all 293):

    AW732016 CA487454 BE379190 AI436361 BM709114 BE675683 AA730038 BE206675 
    AI783845 BM692665 BQ186896 AI373213 BM753056 BF436712 BQ011507 BI771012 
    BU194080 BM753189 AW273786 AI750356 BF516524 BG774737 AW950813 BM723094 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    NPRL3 expression in normal human tissues (normalized intensities)      NPRL3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGTTGATCAC
    NPRL3 Expression
    About this image


    NPRL3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 4 entries
             Proerythroblasts Hematopoietic Bone Marrow
             umbilical cord reticulocytes   
     
     Umbilical Cord (Extraembryonic Tissues)
             umbilical cord reticulocytes   
     
     Bone (Muscoskeletal System)
             bone marrow   

    See NPRL3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NPRL3

    SOURCE GeneReport for Unigene cluster: Hs.19699

    UniProtKB/Swiss-Prot: NPRL3_HUMAN, Q12980
    Tissue specificity: Widely expressed

        SABiosciences Custom PCR Arrays for NPRL3
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NPRL3
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NPRL3

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for NPRL3 gene from 7/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nprl31 , 5 nitrogen permease regulator-like 3 (S. cerevisiae)5
    nitrogen permease regulator-like 31
    88.79(n)1
    96.48(a)1
      11 (18.83 cM)5
    171681  NM_181569.21  NP_853547.11 
     322256285 
    chicken
    (Gallus gallus)
    Aves NPRL31 nitrogen permease regulator-like 3 (S. cerevisiae) 78.64(n)
    87.48(a)
      416649  XM_003642134.1  XP_003642182.1 
    lizard
    (Anolis carolinensis)
    Reptilia NPRL36
    Uncharacterized protein
    84(a)
    1 ↔ 1
    AAWZ02037681(4902-13862)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC686242 hypothetical protein MGC68624 79.07(n)    BC059973.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb68d062 Transcribed sequence with moderate similarity to protein more 78.05(n)    CA473972.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG87831 CG8783 50.61(n)
    41.24(a)
      39550  NM_168570.1  NP_729945.1 
    worm
    (Caenorhabditis elegans)
    Secernentea nprl-31 Protein NPRL-3 39.64(n)
    28.39(a)
      185331  NM_068995.5  NP_501396.1 


    ENSEMBL Gene Tree for NPRL3 (if available)
    TreeFam Gene Tree for NPRL3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NPRL3 gene
    1 SIMAP similar gene for NPRL3 using alignment to 9 protein entries:     NPRL3_HUMAN (see all proteins):
    C16orf35

    NPRL3 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1501 SNPs in NPRL3 are shown (see all 1501)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1839433941,2
    --75310(+) CACAGA/GATGTC 5 -- ds50010--------
    rs2015413831,2
    C--75349(+) GAGCCT/CAGGGA 5 -- ds50011Minor allele frequency- C:0.00EU 1287
    rs2000835051,2
    --75352(+) CCTAGA/GGAGGC 5 -- ds50010--------
    rs1458240881,2
    C,F--75399(+) CTTGCG/ATCTTG 5 -- ds50011Minor allele frequency- A:0.00NA 4260
    rs1485764481,2
    C--75445(+) CATGCG/ATCAGC 5 -- ds50011Minor allele frequency- A:0.00NA 4474
    rs7691911,2
    C,F,H--75461(+) AGCACC/TCTCCG 5 -- ds50018Minor allele frequency- T:0.00NA NS MN 5542
    rs2009191971,2
    C--75465(+) CCCTCC/G/TGGAAA 5 -- ds50010--------
    rs1435410451,2
    C--75472(+) AAAGG-/CCACCG 5 -- ds50010--------
    rs2002023231,2
    C--75500(+) GACCGC/TGAGCT 5 -- ds50010--------
    rs1463871641,2
    C,F--75588(+) AAGCTG/CTATGG 5 -- ds50011Minor allele frequency- C:0.00NA 4322

    HapMap Linkage Disequilibrium report for NPRL3 (134273 - 188859 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/15 variations for NPRL3 (see all 15):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2657149CNV Deletion23128226
    esv2422427CNV Duplication17116639
    esv1304431CNV Insertion17803354
    nsv1697CNV Insertion18451855
    nsv904628CNV Loss21882294
    nsv904631CNV Loss21882294
    dgv2458n71CNV Loss21882294
    nsv904634CNV Loss21882294
    esv32706CNV Loss17666407
    nsv518291CNV Loss19592680

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600928    OMIM disorders: --

    4 diseases for NPRL3:    About MalaCards
    secondary hypertrophic osteoarthropathy    myoblastoma    alpha thalassemia    thalassemia

    3 diseases from the University of Copenhagen DISEASES database for NPRL3:
    Thalassemia     Myoblastoma     Secondary hypertrophic osteoarthropathy

    NPRL3 for disorders           About GeneDecksing


    Export disorders for NPRL3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for NPRL3 gene, integrated from 9 sources (see all 19):
    (articles sorted by number of sources associating them with NPRL3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Conservation of position and sequence of a novel, widely expressed gene containing the major human alpha-globin regulatory element. (PubMed id 8575760)1, 2, 3 Vyas P.... Higgs D. (1995)
    2. A genome-wide screen for regulators of TORC1 in respo nse to amino acid starvation reveals a conserved Npr2/3 complex. (PubMed id 19521502)1, 2 Neklesa T.K. and Davis R.W. (2009)
    3. A regulatory SNP causes a human genetic disease by creating a new transcriptional promoter. (PubMed id 16728641)1, 2 De Gobbi M.... Higgs D.R. (2006)
    4. The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)1, 2 Martin J.... Pennacchio L.A. (2004)
    5. Genome-wide association analysis of red blood cell tra its in African Americans: the COGENT Network. (PubMed id 23446634)1 Chen Z....Reiner A.P. (2013)
    6. GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children. (PubMed id 23263863)1 Li J....Sleiman P.M. (2013)
    7. Genetic determinants of haemolysis in sickle cell anae mia. (PubMed id 23406172)1 Milton J.N....Steinberg M.H. (2013)
    8. Seventy-five genetic loci influencing the human red bl ood cell. (PubMed id 23222517)1 van der Harst P....Chambers J.C. (2012)
    9. Nprl3 is required for normal development of the cardio vascular system. (PubMed id 22538705)1 Kowalczyk M.S....Higgs D.R. (2012)
    10. Functional dissection of lysine deacetylases reveals t hat HDAC1 and p300 regulate AMPK. (PubMed id 22318606)1 Lin Y.Y....Boeke J.D. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8131 HGNC: 14124 AceView: C16orf35 Ensembl:ENSG00000103148 euGenes: HUgn8131
    ECgene: NPRL3 H-InvDB: NPRL3

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for NPRL3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for NPRL3 gene:
    Search GeneIP for patents involving NPRL3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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